X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (23) 23
male (15) 15
hematology (14) 14
index medicus (14) 14
mutation (11) 11
female (10) 10
child (7) 7
child, preschool (6) 6
factor-viii gene (6) 6
hemophilia a - genetics (6) 6
research (6) 6
animals (5) 5
factor viii - genetics (5) 5
hemophilia (5) 5
mutations (5) 5
analysis (4) 4
dna mutational analysis (4) 4
expression (4) 4
gene mutations (4) 4
genetic aspects (4) 4
mice (4) 4
middle aged (4) 4
pedigree (4) 4
peripheral vascular disease (4) 4
point mutation (4) 4
polymerase chain reaction (4) 4
thrombasthenia - genetics (4) 4
adult (3) 3
biology (3) 3
cancer (3) 3
cell biology (3) 3
cohort studies (3) 3
exons (3) 3
fatty liver - metabolism (3) 3
genes (3) 3
genetic predisposition to disease (3) 3
genotype (3) 3
glanzmann thrombasthenia (3) 3
hemophilia a (3) 3
hepatocytes (3) 3
hepatocytes - metabolism (3) 3
hepatocytes - pathology (3) 3
human health and pathology (3) 3
identification (3) 3
inhibitor development (3) 3
introns (3) 3
inversions (3) 3
life sciences (3) 3
lipid metabolism (3) 3
liver cancer (3) 3
liver-disease (3) 3
metabolic syndrome (3) 3
metabolism (3) 3
phenotype (3) 3
physiology (3) 3
recombinant proteins - therapeutic use (3) 3
risk factors (3) 3
sequence deletion (3) 3
severity of illness index (3) 3
abridged index medicus (2) 2
activated protein-kinase (2) 2
activation (2) 2
adolescent (2) 2
amino acid substitution (2) 2
base sequence (2) 2
biomarkers - metabolism (2) 2
blood coagulation factor viii (2) 2
carcinoma, hepatocellular - metabolism (2) 2
carcinoma, hepatocellular - pathology (2) 2
consequences (2) 2
deletion (2) 2
deoxyribonucleic acid--dna (2) 2
down-regulation (2) 2
endoplasmic-reticulum (2) 2
epigenesis, genetic (2) 2
exons - genetics (2) 2
factor v deficiency - genetics (2) 2
factor viii - immunology (2) 2
factor viii - therapeutic use (2) 2
fatty acids (2) 2
fatty liver - complications (2) 2
fatty liver - genetics (2) 2
fatty-acid oxidation (2) 2
france (2) 2
france - epidemiology (2) 2
gastroenterology & hepatology (2) 2
gastroenterology and hepatology (2) 2
gene (2) 2
genes, reporter (2) 2
genetic linkage (2) 2
genetics & heredity (2) 2
glucose metabolism (2) 2
hemophilia a - drug therapy (2) 2
hemophilia a - epidemiology (2) 2
hemophilia a - immunology (2) 2
hepatic steatosis (2) 2
hepatocellular carcinoma (2) 2
histones - genetics (2) 2
histones - metabolism (2) 2
infant (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Mutation, ISSN 1059-7794, 05/2015, Volume 36, Issue 5, pp. 548 - 561
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 2489 - 2489
Abstract Background: Genetic variations that are found at a relatively high frequency can be the consequence of a founder effect or repeated de novo events.... 
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 05/2015, Volume 36, Issue 5, pp. 548 - 561
We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause... 
CYTOPLASMIC DOMAIN | ALPHA-IIB | LIGAND-BINDING | BETA-3 INTEGRIN | ITGB3 | ITGA2B | Glanzmann thrombasthenia | MISSENSE MUTATIONS | integrin IIb3 | FRENCH COHORT | DELETION | molecular modeling | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | GLYCOPROTEIN-IIB-IIIA | BETA SUBUNIT
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e54458
Background: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide. Prevention and risk reduction are important and the identification of... 
OBESITY | INFLAMMATION | MULTIDISCIPLINARY SCIENCES | FATTY LIVER | DOWN-REGULATION | PTEN | KAPPA-B | CANCER | PROGRESSION | IL-6 | Immunohistochemistry | Humans | Fatty Liver - complications | Hepatocytes - pathology | Male | Hepatocytes - metabolism | Fatty Liver - chemically induced | Liver Neoplasms - etiology | Cell Nucleus - metabolism | Protein Isoforms - metabolism | Tumor Microenvironment - genetics | Cell Nucleus - pathology | Carcinoma, Hepatocellular - genetics | Diet, High-Fat | Diethylnitrosamine | Liver Neoplasms - pathology | Carcinoma, Hepatocellular - etiology | Biomarkers - metabolism | Fatty Liver - genetics | PTEN Phosphohydrolase - genetics | PTEN Phosphohydrolase - deficiency | Fatty Liver - metabolism | Liver Neoplasms - genetics | Gene Expression Regulation | Mice, Knockout | Animals | Histones - genetics | Cell Nucleus - genetics | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Mice | Histones - metabolism | Carcinoma, Hepatocellular - metabolism | Protein Isoforms - genetics | Prognosis | Phosphatases | Carcinoma | Liver | Research | Risk factors | Liver cancer | Colon cancer | Analysis | Physiological aspects | Genetic aspects | Diagnosis | Chromosomes | Cancer | Pathogenesis | Lung cancer | Immunoblotting | Phosphatase | Nuclei | Cell growth | Physiology | Lipid metabolism | Tensin | Obesity | Liver diseases | Melanoma | Anatomy & physiology | Metabolism | Fatty acids | Hospitals | Hepatocytes | Isoforms | Biomarkers | Nuclei (cytology) | Neurosciences | Animal models | Homology | Lipids | Hepatocellular carcinoma | Metabolic syndrome | High fat diet | Fatty liver | Metabolites | Rodents | Hepatology | Gastroenterology | Cell cycle | Colon | Tumor cells | Health risks | Risk reduction | Steatosis | Medicine | Biopsy | Diagnostic systems | PTEN protein | Tumors
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3
The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. (2013) Correction:... 
Liver cancer | Hepatocellular carcinoma | Isoforms | Steatosis
Journal Article
Blood, ISSN 0006-4971, 12/2015, Volume 126, Issue 23, pp. 2273 - 2273
Abstract Introduction The identification of molecular defects in haemophilia is essential for the optimization of patient treatment and the formal... 
Journal Article
FASEB Journal, ISSN 0892-6638, 05/2015, Volume 29, Issue 5, pp. 1676 - 1687
Journal Article